abnormal enamel morphology_Slc24a4<tm1.1Hazh>/Slc24a4<tm1.1Hazh>

http://metadb.riken.jp/0002576I129S6SvEvTacSlc24a4tm11HazhSlc24a4tm11HazhSlc24a4tm11Hazh

abnormal enamel morphology_Slc24a4<tm1.1Hazh>/Slc24a4<tm1.1Hazh>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:2447362

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Slc24a4<tm1.1Hazh>/Slc24a4<tm1.1Hazh>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Slc24a4<tm1.1Hazh>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129S6/SvEvTac

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal enamel morphology
  http://purl.obolibrary.org/obo/MP_0002576

文献

http://purl.org/net/cito/citesAsAuthority

• David A. Parry, et.al., Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta., American journal of human genetics, 2013, 92
  http://rdf.ncbi.nlm.nih.gov/pubmed/23375655